1. Blackburn, Susan PhD, RN,C, FAAN

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Medical Genetics, 3rd ed. by L.B. Jorde, J.C. Carey, M.J. Bamshad, and R.L. White. St. Louis: Mosby; 2003. 363 pages.


Medical Genetics is a comprehensive clinically oriented genetics text that addresses the range of genetic topics encountered across the healthcare and age continuum. This third edition updates and expands content from previous editions. The book includes expanded material on the Human Genome Project and its ethical, legal, and societal issues as well as more in-depth content on new issues and techniques such as pharmacogenomics, cloning, genetic enhancement, gene mapping, cancer genetics, immunogenetics, and stem cell research.


The book is divided into 14 chapters. Chapter 1 reviews the history of genetics and discusses clinical impact of genetics diseases and the significance of genetics for clinicians. Chapter 2 focuses on basic cell biology, the molecular basis of inheritance and the structure of genes, and the human genome. The following chapter examines mutations, genetic variation, and techniques for determining variations in DNA.


Chapters 4 and 5 discuss inheritance of single gene disorders via autosomal, sex-linked, and mitochondrial patterns of inheritance. Also included is a section on factors that may complicate inheritance patterns such as altered penetrance, variable and expressivity, germline mosaicism, genomic imprinting, and repeated expansions. Chapter 6 discusses clinical cytogenetics and the role of alterations in chromosome number and structure in disease. Chapter 7 examines biochemical genetics, metabolic disorders, and pharmacogenetics. A chapter follows this on gene mapping and cloning.


The next 4 chapters (9 through 12) are examples of application of genetic principles to specific specialty areas. Chapter 9 focuses on immunogenetics and the role of genetics in immune responses, major histocompatibility complexes, blood groups, and immunodeficiency diseases. Chapter 10 examines developmental genetics and the current understanding about how genes control development of the embryo and fetus. Cancer genetics is described in chapter 11, including the genetic considerations in the development of cancer, major classes of cancer genes, and examples of known inherited cancer genes. Chapter 12 covers the basis for multifactorial inheritance and its role in development of certain congenital anomalies as well as adult-onset disorders such as cardiovascular problems, diabetes mellitus, Alzheimer disease, psychiatric disorders, and others.


Chapter 13 is on genetic testing and gene therapies. Much of this chapter focuses on newborn screening and prenatal screening and diagnosis. The final chapter discusses genetic counseling, dysmorphology, and ethical considerations.


The book is well illustrated with diagrams, figures, and tables throughout. Interspersed within the text are "Clinical Commentaries," boxes that provide case examples and current management considerations. Minisummaries of major points are highlighted for each topic. Study questions (with answers at the end of the book) are provided for each chapter. In addition to print resources, many chapters have suggested Internet sites. In addition an Internet site has been developed by the authors to supplement and update content in the text. This site also provides a test question bank. This book is an excellent resource for use in genetics courses for nursing and medical students and other health professionals as well as a general genetics practice resource.